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NCT Number: NCT06131983

Study of SRP-1001 in Adult and Adolescent Participants With Facioscapulohumeral Muscular Dystrophy Type 1

The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics of SRP-1001 in participants with facioscapulohumeral muscular dystrophy Type 1 (FSHD1). In Part 1 of the study, participants will receive one dose of SRP-1001 or placebo. In Part 2 of the study, participants will receive 4 doses of SRP-1001 or placebo. Participants who complete Part 1 will have the option to re-screen and re-randomize into Part 2. All participants will undergo pre- and post-dose magnetic imaging resonance (MRI)-guided muscle biopsies (a total of 2 biopsies). Participants who complete Part 1 and enroll in Part 2 will be required to undergo an additional screening biopsy. Participants completing Part 1 or Part 2 may have the option to continue to receive drug in an open-label extension study or may be eligible to participate in later-stage clinical studies.

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Key information

Conditions

Muscular Dystrophy, Facioscapulohumeral Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

16 year–70 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Liverpool Hospital, Liverpool, New South Wales, Australia

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Key Inclusion Criteria:

  • Genetically confirmed FSHD1 based on screening evaluation or source verifiable medical record
  • Clinical severity score between 3 and 8 (scale, 0 to 10)
  • Must have an eligible lower extremity muscle for biopsy as determined from MRI by a central reader, with muscle fat fraction ≥10% and less than approximately 40%
  • Males or nonpregnant, nonlactating females ≥18 years of age who do not plan to become pregnant during the study, with an upper age limit of ≤70 years
  • Able and willing to provide written informed consent prior to the performance of any study specific procedures
  • Participants with a body mass index (BMI) between 18.0 and 35.0 kilograms/square meter, inclusive. A participant with FSHD1 and a BMI outside this range may be allowed into the study at the discretion of the principal investigator.
  • Must have eligible lower extremity muscle for biopsy as determined from MRI by a central reader
  • A 12-lead electrocardiogram at screening with no abnormalities that may compromise participant's safety in the study
  • Participants of childbearing potential and their partners must use highly effective contraception during the study and for at least 9 months following the end of study or last dose of study medication, whichever is later. Males must not donate sperm during the study from Day 1 until at least 9 months following the end of study or last dose of study medication, whichever is later.

Key Exclusion Criteria:

  • Human immunodeficiency virus (HIV) infection as shown by presence of anti-HIV antibody (seropositive) at screening
  • Seropositive for hepatitis B or hepatitis C at screening
  • Uncontrolled hypertension
  • Severe cardiovascular disease
  • History of thrombolic events
  • Platelet count less that the lower limit of normal at screening
  • History or presence of: a hypercoagulable state, nephrotic range proteinuria, antiphospholipid antibody syndrome, myeloproliferative disease, inability to ambulate, use of hormone-based contraceptives.
  • Any contraindication to muscle biopsy or MRI

Note: additional inclusion/exclusion criteria may apply per protocol

Treatment and study plan

SRP-1001 for Injection

Drug

Single or multiple doses of SRP-1001 by intravenous (IV) infusion

Other names: ARO-DUX4 for Injection

Placebo

Drug

Calculated volume to match active treatment by IV infusion

Primary outcomes

  1. Number of Participants With Treatment-Emergent Adverse Events Over Time Through End of Study

    Time frame: Part 1: Up to Day 90; Part 2: Up to Day 360

Secondary outcomes

  1. PK of SRP-1001: Maximum Observed Plasma Concentration (Cmax)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

  2. PK of SRP-1001: Area Under the Plasma Concentration Versus Time Curve from Zero to 24 Hours (AUC0-24)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

  3. PK of SRP-1001: Area Under the Plasma Concentration Versus Time Curve from Zero to the Last Quantifiable Plasma Concentration (AUClast)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

  4. PK of SRP-1001: Area Under the Plasma Concentration Versus Time from Zero to Infinity (AUCinf)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

  5. PK of SRP-1001: Terminal Elimination Half-Life (t1/2)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

  6. PK of SRP-1001: Systemic Clearance (CL)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

  7. PK of SRP-1001: Volume of Distribution (Vss)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

  8. PK of SRP-1001: Recovery of Unchanged Drug in Urine Over 0-24 Hours (Amount Excreted: Ae)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

  9. PK of SRP-1001: Fraction of Drug Excreted in Urine as Percent of IV Dose (Fe)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

  10. PK of SRP-1001: Renal Clearance (CLr)

    Time frame: Part 1: through 48 hours post-dose (all cohorts) and through 48 hours post second dose (Cohorts 3 & 4 only); Part 2: through 8 hours post first and second dose

Study contacts

Contact information is provided by the study sponsor or research team.

Sarepta Therapeutics Inc. For Clinical Trial Information, Select Option 4

CONTACT

[email protected]

1-888-SAREPTA (1-888-727-3782)

Sponsors and collaborators

Lead sponsor

Sarepta Therapeutics, Inc.

Industry

Registry information

Official study title

A Phase 1/2a Dose-Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of ARO-DUX4 (SRP-1001) in Adult Patients and Adolescent Patients With Facioscapulohumeral Muscular Dystrophy Type 1

Important dates

Study start
2024
Primary completion
2028
Study completion
2028
First posted
Nov 15, 2023
Registry last updated
Aug 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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